Submissions for variant NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251913	SCV000303941	likely benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000256231	SCV000322822	benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Illumina Laboratory Services, Illumina	RCV000256231	SCV000427196	likely benign	Hypercholesterolemia, familial, 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000251913	SCV000568078	benign	not specified	2016-10-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000256231	SCV000588409	benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845489	SCV000987587	benign	not provided		criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000251913	SCV001469338	benign	not specified	2019-11-22	criteria provided, single submitter	clinical testing
Invitae	RCV001837802	SCV001728420	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV002287892	SCV002578241	benign	Familial hypercholesterolemia	2022-09-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450767	SCV002615097	benign	Cardiovascular phenotype	2015-12-10	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
OMIM	RCV003389246	SCV000039776	benign	APOB POLYMORPHISM IN SIGNAL PEPTIDE	1990-03-01	no assertion criteria provided	literature only
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000845489	SCV001550340	uncertain significance	not provided		no assertion criteria provided	clinical testing	multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 26.862% in gnomAD_Genomes) based on the frequency threshold of 1.253% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.In-frame deletion in a repetitive region is less likely to be pathogenic.
Clinical Genetics, Academic Medical Center	RCV000251913	SCV001925443	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000251913	SCV001962778	benign	not specified		no assertion criteria provided	clinical testing